Daily/Weekly Thoughts
Daily/Weekly Thoughts

January 2018

Crushing A Huge Milestone!

CRUSHING A HUGE MILESTONE!

When you're told that your child will never be able to support the weight of their own head and never, ever be able to sit up on their own it is a crushing blow. Even though you're already sort of prepared for it because you know that your little one has missed so many milestones that a baby usually reaches. Fast forward a couple of years, a number of doses of the wonder drug Spinraza, a ton of prayer, endless hours of support, encouragement, sometimes tears, and here we are. Emmett is Crushing this milestone! Look at this little boy sitting by himself with no pillow supports holding him up. This is absolutely a first. Emmett has sat on furniture with back support. He has sat on the floor with lower back support. This is the first time he has been sitting with nothing supporting his lower back. Little ones with Spinal Muscular Atrophy - Type 1 simply do not sit on their own! Of course, there are pillows not to far away to protect him when he falls. Because he will fall. He describes falling as 'going bonk' on his head! And then he laughs. Spinraza is a miracle drug - it's like Emmett has received a touch of God. A drug that can rebuild the nervous system so that messages can move between the brain and muscles absolutely is a miracle.

Emmett is wearing his custom back brace in all of these photos and video clips. This back brace, visible in this photo, is a recent addition to Emmett's lifestyle and it is very important to straighten his spine and reduce the risk and effect of Scoliosis. This brace does not hold him upright - it only supports his spine. This in turn makes it more comfortable for him to sit. 

This brace is fitting to Emmett's torso. It's a two piece unit with the first piece fitting around his torso. The second piece goes around and has velcro straps to hold it in place.

When sitting alone Emmett's core muscles are doing all of the work to hold him up. You can see that when he loses balance then he's going to fall over. The brace is not holding him up. 

Of course, there is something else at play here. Emmett is focused upon a YouTube video. As he rarely gets to watch TV that is a huge attraction and absolutely makes him work hard to stay sitting so that he can watch. Fortunately for all of the adults, Emmett has left Paw Patrol behind and Daniel Tiger is now the number 1 video attraction.

Of course, Emmett's custom wheelchair is getting even more use now that the back brace is here. Emmett found it too uncomfortable to sit in for any length of time as his upper body would compress the lower portion of his torso. With the brace, Emmett is sitting in his chair for up to an hour a day. First thing in the morning he asks for it! This video was taken after about 45 minutes in the chair so he wasn't too eager to demonstrate how he can move it by himself but he certainly can. Backwards is best.

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CTV News Clip - Spinraza for all

 

Emmett loved seeing himself on TV. He is a very bright and alert little kid, but I really cannot say that he knew that he was on the provincial news. He did, however, absolutely want to have the clip reviewed and watch it over again and again. He also recognized some of the other kids in the video - some he's met before while for some others this was the first time. 

Emmett fits the recommendations that are currently being reviewed by local provincial government here in B.C.  This is not merely a disease that affects children. Type 4 is adult onset Spinal Muscular Atrophy. Type 3 may not be identified until into the teen years - although it is usually evident at a much younger age. Then there are Type 2 youngsters who are identified early by the fact that, while they can sit up, they are unable to walk. As you can imagine, there are a range of ability within each of these types. Emmett is Type 1. Not all Type 1 individuals will meet the narrow recommendations.

The teacher (and perfectionist) in me wants to clarify. Kids and adults with SMA have perfectly fine muscles. The problem is that the message between the brain and the muscles is not transmitted. Thus the muscles atrophy. This drug, Spinraza, essentially creates a pathway that allows this message to get to the muscles. This is why this drug is so fantastic. And so fantastically expensive. But when governments, most importantly our Canadian government, around the world start discussions with Biogen, they will be able to get the price to a much more realistic figure.

This is why we need and want you to write your local MPP and your province's Minister of Health. See yesterdays post for that information.

Emmett has a couple of cameo's in this clip. Watch for him! He was asked for an interview but he declined! He just wanted to play!

 

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Here's what you can do!

Baking Up An Angel Food Cake!

Recently we posted that a recommendation was being made that would severely limit who received access to the miracle drug, Spinraza. Provincial government officials will be reviewing these recommendations and then making the decision about this new drug. Right now, we believe that it will be beneficial to write to your local Member of Provincial Parliament, your Provincial Minister of Health, and your Provincial Deputy Minister of Health and express your concern. To assist you, we have drafted a letter that you may want to use - click on the province in which you live. These are in rich text format, which will hopefully work easily with the word processing program of your choice. One is drafted for those living in British Columbia (click here to download) and another is for those living in Ontario (click here to download) - we've used these two provinces as that is where the majority of Emmett's family lives. If you live in another province, we encourage you to write to your provincial leaders. If you need help adapting this letter, please let us know.

What does this young baker have to do with needing a drug called Spinraza? Absolutely everything. Without Spinraza Emmett could not attempt to stir the batter. Without Spinraza he would not be able to even hold something as heavy as this wooden spoon. Without Spinraza Emmett could not hold his head up. Without Spinraza Emmett would be so limited in what he could do. Please take the time to copy one of these letters, fill in your information, and mail or email it one or hopefully all three of the listed names for your province. All Canadian's with Spinal Muscular Atrophy need to have access to this drug.  Our Government needs to talk to Biogen, the company that makes Spinraza, and get the cost of this drug down to a more reasonable level. Patients cannot get pricing changes but the government has the ability and purchasing power to make that happen.

Thank you for your help and support.

 

Don't want to click and download? Here's the text of the letter that you can copy and paste.

Below is a sample letter that may help you develop yours. Items underlined can be changed for the specifics of your letter. At this point we feel the most valuable contacts would be your MLA (link below for BC MLAs), Adrian Dix (BC Minister of Health), and Doug Hughes (BC Deputy Minister). If you don’t live in BC, we would appreciate you taking the time to send to your provincial representatives. Approval of Spinraza is something that will be a challenge all across Canada. Thanks you so much for your support of our family, and all other families affected by SMA!

Sincerely,

Alisha, Josh, and Emmett

 

Your Name

Your Address

Your Phone/Email

 

Date ??, 2018

 

Subject: Approval of Spinraza (Nusinersen) treatment for all patients with Spinal Muscular Atrophy

 

Dear Honorable [MLA]:

 

My name is _______________ and I have resided in the _______________ area for over ______ years. I am a (your job).  My ___(friend, family)________, Emmett Willms was diagnosed with Spinal Muscular Atrophy, Type 1 when he was five months old. SMA is a genetic, life-threatening and seriously debilitating neuromuscular condition for which there is no cure. In December 2016, the US FDA approved a medication called Spinraza and Health Canada followed suit in July 2017 with their approval. This news brought hope to the SMA communities worldwide as this treatment was proving transformative, especially for those starting young. Emmett began a clinical trial just over two years ago (for Spinraza). Patients in the trial achieved milestones such as the ability to move arms, legs, and sit unassisted when they would otherwise be unexpected to do so. They reached these milestones when specialists expected that they would be forever lost, and lifespans are now, rather than terrifyingly short, happily extended. The overall findings of the controlled double blind trials support the effectiveness of Spinraza across the range of SMA patients, and appear to support the early initiation of the treatment.  

 

For the first seven months of Emmett’s life (before starting on Spinraza), he lost the ability to move his legs or any significant arm movement. He lost the ability to swallow. He could not sit, hold his head up, or even sit in a car seat. His physicians doubted that we would ever hear him talk. They prepared us for the fact that he would not survive. We feared for his future.

 

In the past two years since beginning the Spinraza Trial, Emmett has gained strength in so many ways. He has gained very significant core strength and head control. He is gaining strength in his arms and movement is returning to his legs. He can sit in a car seat and, with lower back support, can sit and hold his own head up. He is incredibly bright and eager – chattering like many other two and three year olds. Emmett has had a power wheelchair since he was 16 months old – he enjoys the freedom that this mobility offers him.

 

Without Spinraza, Emmett would never have been able to do these things and, as SMA is a degenerative and terminal disease, his lifespan was drastically shortened. With Spinraza, Emmett is literally so much more physically involved in everything that is around him. Raising a child with SMA is taxing and emotionally and physically draining on caregivers.  Spinraza will ease the burden on families because patients will be stronger and more capable.

 

Spinraza (manufactured by Biogen) will soon be under review at the provincial level and I hereby request that you support the decision to approve this treatment for all those suffering from Spinal Muscular Atrophy.  It is a rare condition that affects 1 in 6,000 to 1 in 10,000 patients, so there are a small number of patients living in British Columbia with the condition.  All of them deserve a better quality of life and access to treatment.  

 

Other countries such as Sweden, France, Israel, and the US have treatment available for all types of SMA regardless of age, the number of backup genes and other symptoms.    

 

For more information about SMA, please visit CureSMA.org or CureSMA.ca.

 

Below is a link to a blog that documents Emmett’s improvements while on the clinical trial.

 

www.emmetts-journey.com

 

If you are unable to use the link above, if you search “Emmett’s Journey SMA” on Google or in YouTube, you will find links to Emmett’s Journey.

 

Thank you in advance for your attention to this very important and urgent matter.  I look forward to hearing from you with regard to this request. Please feel free to contact me at the address and phone number above.

 

Sincerely,

 

[Your name]

 

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